Article
The molecular basis of copper-transport diseases.
Trends in molecular medicine - 1 Feb 2001
Mercer J F
Abstract excerpt
Copper (Cu) is a potentially toxic yet essential element. MENKES DISEASE, a copper deficiency disorder, and WILSON DISEASE, a copper toxicosis condition, are two human genetic disorders, caused by mutations of two closely related Cu-transporting ATPases. Both molecules efflux copper from cells. Quite diverse clinical phenotypes are produced by different mutations of these two Cu-transporting proteins. The...
Topics
- Alzheimer Disease
- Copper
- Genetic Linkage
- Hepatolenticular Degeneration
- Humans
- Menkes Kinky Hair Syndrome
- Models, Biological
- Mutation
- Phenotype
- X Chromosome